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Diseases of the Reticuloendothelial System

  • Robert Hemke
  • Mario Maas
Part of the Medical Radiology book series (MEDRAD)

Abstract

This chapter will illustrate the strengths and weaknesses of various imaging techniques in patients with diseases involving the reticuloendothelial system, such as in Gaucher disease (GD), mastocytosis, and histiocytosis. The focus is primarily on Magnetic Resonance Imaging of bone and the bone marrow compartment, mainly focusing on GD. The emerging role of radiology in the management of GD patients, demands radiologists to be aware of specific features and the possibilities of radiology. This chapter will give an overview of up-to-date imaging techniques, -protocols, and -features, and reviews the current literature on skeletal involvement of diseases of the reticuloendothelial system.

Keywords

Enzyme Replacement Therapy Gauche Disease Systemic Mastocytosis Bone Marrow Infiltration Gauche Cell 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

References

  1. Akkerman EM, Maas M (1995) A region-growing algorithm to simultaneously remove dephasing influences and separate fat and water in two-point Dixon imaging. Proceedings of the society for magnetic resonance in medicine and the European Society for Magnetic Resonance in Medicine and Biology, 1995Google Scholar
  2. Arias M, Villalba C et al (2004) Acute spinal epidural hematoma and systemic mastocytosis. Spine 29(8):E161–E163PubMedCrossRefGoogle Scholar
  3. Avila NA, Ling A, Metcalfe DD, Worobec AS (1998) Mastocytosis: magnetic resonance imaging patterns of marrow disease. Skeletal Radiol 27(3):119–126PubMedCrossRefGoogle Scholar
  4. Azouz EM, Saigal G, Rodriguez MM, Podda A (2005) Langerhans’ cell histiocytosis: pathology, imaging and treatment of skeletal involvement. Pediatr Radiol 35:103–115PubMedCrossRefGoogle Scholar
  5. Barton NW, Brady RO, Dambrosia JM et al (1992) Dose-dependent responses to macrophage-targeted glucocerebrosidase in a child with Gaucher disease. J Pediatr 120:277–280PubMedCrossRefGoogle Scholar
  6. Beltran J, Aparisi F, Bonmati LM, Rosenberg ZS, Present D, Steiner GC (1993) Eosinophilic granuloma: MRI manifestations. Skeletal Radiol 22:157–161PubMedCrossRefGoogle Scholar
  7. Berry DH, Gresik MV, Humphrey GB et al (1986) Natural history of histiocytosis X: a pediatric oncology group study. Med Pediatr Oncol 14:1–5PubMedCrossRefGoogle Scholar
  8. Braiteh F, Boxrud C, Esmaeli B, Kurzrock R (2005) Successful treatment of Erdheim-Chester disease, a non-Langerhans-cell histiocytosis, with interferon-alpha. Blood 106:2992–2994PubMedCrossRefGoogle Scholar
  9. Breuil V, Brocq O, Pellegrino C, Grimaud A, Euller-Ziegler L (2002) Erdheim-Chester disease: typical radiological bone features for a rare xanthogranulomatosis. Ann Rheum Dis 61:199–200PubMedCrossRefGoogle Scholar
  10. Broadbent V, Egeler RM, Nesbit ME Jr (1994) Langerhans cell histiocytosis—clinical and epidemiological aspects. Br J Cancer Suppl 23:S11–S16PubMedGoogle Scholar
  11. Charrow J, Esplin JA, Gribble TJ et al (1998) Gaucher disease: recommendations on diagnosis, evaluation, and monitoring. Arch Intern Med 158:1754–1760PubMedCrossRefGoogle Scholar
  12. Charrow J, Andersson HC, Kaplan P et al (2004) Enzyme replacement therapy and monitoring for children with type 1 Gaucher disease: consensus recommendations. J Pediatr 144:112–120PubMedCrossRefGoogle Scholar
  13. Chester W (1930) Über Lipoidgranulomatose. Virchows Arch Pathol Anat Physiol 279:561–602CrossRefGoogle Scholar
  14. Colbert C (1972) The osseous system: an overview. Invest Radiol 7:223–239PubMedCrossRefGoogle Scholar
  15. Cremin BJ, Davey H, Goldblatt J (1990) Skeletal complications of type I Gaucher disease: the magnetic resonance features. Clin Radiol 41:244–247PubMedCrossRefGoogle Scholar
  16. Davies AM, Pikoulas C, Griffith J (1994) MRI of eosinophilic granuloma. Eur J Radiol 18:205–209PubMedCrossRefGoogle Scholar
  17. de Fost M, van Noesel CJ, Aerts JM, Maas M, Poll RG, Hollak CE (2008) Persistent bone disease in adult type 1 Gaucher disease despite increasing doses of enzyme replacement therapy. Haematologica 93:1119–1120PubMedCrossRefGoogle Scholar
  18. Deegan PB, Pavlova E, Tindall J et al (2011) Osseous manifestations of adult Gaucher disease in the era of enzyme replacement therapy. Medicine (Baltimore) 90:52–60CrossRefGoogle Scholar
  19. DeMayo RF, Haims AH, McRae MC, Yang R, Mistry PK (2008) Correlation of MRI-Based bone marrow burden score with genotype and spleen status in Gaucher’s disease. AJR Am J Roentgenol 191(1):115–123PubMedCrossRefGoogle Scholar
  20. Dion E, Graef C, Miquel A et al (2006) Bone involvement in Erdheim-Chester disease: imaging findings including periostitis and partial epiphyseal involvement. Radiology 238:632–639PubMedCrossRefGoogle Scholar
  21. Dixon WT (1984) Simple proton spectroscopic imaging. Radiology 153:189–194PubMedGoogle Scholar
  22. Dooms GC, Fisher MR, Hricak H, Richardson M, Crooks LE, Genant HK (1985) Bone marrow imaging: magnetic resonance studies related to age and sex. Radiology 155:429–432PubMedGoogle Scholar
  23. Elstein D, Abrahamov A, Hadas-Halpern I, Meyer A, Zimran A (1998) Low-dose low-frequency imiglucerase as a starting regimen of enzyme replacement therapy for patients with type I Gaucher disease. QJM 91:483–488PubMedCrossRefGoogle Scholar
  24. Eustace S, Tello R, DeCarvalho V et al (1997) A comparison of whole-body turboSTIR MR imaging and planar 99mTc-methylene diphosphonate scintigraphy in the examination of patients with suspected skeletal metastases. AJR Am J Roentgenol 169:1655–1661PubMedGoogle Scholar
  25. Farahati J, Trenn G, John-Mikolajewski V et al (1996) Use of various diagnostic methods in a patient with Gaucher disease type I. Clin Nucl Med 21:619–625PubMedCrossRefGoogle Scholar
  26. Favara BE, Feller AC, Pauli M et al (1997) Contemporary classification of histiocytic disorders. The WHO committee on histiocytic/reticulum cell proliferations. Reclassification working group of the histiocyte society. Med Pediatr Oncol 29:157–166PubMedCrossRefGoogle Scholar
  27. Fuller M, Meikle PJ, Hopwood JJ (2006) Epidemiology of lysosomal storage diseases: an overview. In: Mehta A,. Beck M, Sunder-Plassmann G, (eds). Fabry Disease: Perspectives from 5 Years of FOS. Oxford: Oxford PharmaGenesisGoogle Scholar
  28. Gaucher P (1882) De l’épithélioma primitif de la rate (hypertrophie idiopathique de la rate sans leucémie). Thèse ParisGoogle Scholar
  29. Gerard EL, Ferry JA, Amrein PC et al (1992) Compositional changes in vertebral bone marrow during treatment for acute leukemia: assessment with quantitative chemical shift imaging. Radiology 183:39–46PubMedGoogle Scholar
  30. Glass RB, Poznanski AK, Young S, Urban MA (1987) Gaucher disease of the liver: CT appearance. Pediatr Radiol 17:417–418PubMedCrossRefGoogle Scholar
  31. Grabowski GA, Leslie N, Wenstrup R (1998) Enzyme therapy for Gaucher disease: the first 5 years. Blood Rev 12:115–133PubMedCrossRefGoogle Scholar
  32. Grabowski GA, Andria G, Baldellou A et al (2004) Pediatric non-neuronopathic Gaucher disease: presentation, diagnosis and assessment. Consensus statements. Eur J Pediatr 163:58–66PubMedCrossRefGoogle Scholar
  33. Grieser T, Minne (1997) HW Systemic mastocytosis and skeletal lesions. Lancet 350:1103–1104Google Scholar
  34. Guggenbuhl P, Grosbois B, Chales G (2008) Gaucher disease. Joint Bone Spine 75:116–124PubMedCrossRefGoogle Scholar
  35. Haney K, Russel W, Raila FA et al (1996) MRI characteristics of systemic mastocytosis of the lumbosacral spine. Skel Rad 25:171–173CrossRefGoogle Scholar
  36. Hermann G, Goldblatt J, Levy RN, Goldsmith SJ, Desnick RJ, Grabowski GA (1986) Gaucher’s disease type 1: assessment of bone involvement by CT and scintigraphy. AJR Am J Roentgenol 147:943–948PubMedGoogle Scholar
  37. Hermann G, Shapiro RS, Abdelwahab IF, Grabowski G (1993) MR imaging in adults with Gaucher disease type I: evaluation of marrow involvement and disease activity. Skeletal Radiol 22:247–251PubMedGoogle Scholar
  38. Hollak CE, Aerts JM, Goudsmit R et al (1995) Individualised low-dose alglucerase therapy for type 1 Gaucher’s disease. Lancet 345:1474–1478PubMedCrossRefGoogle Scholar
  39. Hollak CE, Maas M, Akkerman EM, Aerts H (2001) Dixon quantitative chemical shift imaging is a sensitive tool for the evaluation of bone marrow responses to individualized doses of enzyme supplementation therapy in type 1 Gaucher disease. Blood Cells Mol Dis 27:1005–1012PubMedCrossRefGoogle Scholar
  40. Howarth DM, Gilchrist GS, Mullan BP, Wiseman GA, Edmonson JH, Schomberg PJ (1999) Langerhans cell histiocytosis: diagnosis, natural history, management, and outcome. Cancer 85:2278–2290PubMedCrossRefGoogle Scholar
  41. Huang TY, Yam LT, Li CY (1987) Radiological features of systemic mast cell disease. Br J Radiol 60:765–770PubMedCrossRefGoogle Scholar
  42. James SL, Panicek DM, Davies AM (2008) Bone marrow oedema associated with benign and malignant bone tumours. Eur J Radiol 67:11–21PubMedCrossRefGoogle Scholar
  43. Johnson LA, Hoppel BE, Gerard EL et al (1992) Quantitative chemical shift imaging of vertebral bone marrow in patients with Gaucher disease. Radiology 182:451–455PubMedGoogle Scholar
  44. Kellenberger CJ, Epelman M, Miller SF, Babyn PS (2004) Fast STIR whole-body MR imaging in children. Radiographics 24:1317–1330PubMedCrossRefGoogle Scholar
  45. Lanir A, Hadar H, Cohen I et al (1986) Gaucher disease: assessment with MR imaging. Radiology 161:239–244PubMedGoogle Scholar
  46. Maas M, Akkerman EM, Venema HW, Stoker J, Den Heeten GJ (2001) Dixon quantitative chemical shift MRI for bone marrow evaluation in the lumbar spine: a reproducibility study in healthy volunteers. J Comput Assist Tomogr 25:691–697PubMedCrossRefGoogle Scholar
  47. Maas M, Poll LW, Terk MR (2002a) Imaging and quantifying skeletal involvement in Gaucher disease. Br J Radiol 75(Suppl 1):A13–A24PubMedGoogle Scholar
  48. Maas M, Hollak CE, Akkerman EM, Aerts JM, Stoker J, Den Heeten GJ (2002b) Quantification of skeletal involvement in adults with type I Gaucher’s disease: fat fraction measured by Dixon quantitative chemical shift imaging as a valid parameter. AJR Am J Roentgenol 179:961–965PubMedGoogle Scholar
  49. Maas M, van Kuijk C, Stoker J et al (2003) Quantification of bone involvement in Gaucher disease: MR imaging bone marrow burden score as an alternative to Dixon quantitative chemical shift MR imaging–initial experience. Radiology 229:554–561PubMedCrossRefGoogle Scholar
  50. Maas M, Hangartner T, Mariani G et al (2008) Recommendations for the assessment and monitoring of skeletal manifestations in children with Gaucher disease. Skeletal Radiol 37:185–188PubMedCrossRefGoogle Scholar
  51. Maas M, Kuijper M, Akkerman EM (2011) From Gaucher’s disease to metabolic radiology: translational radiological research and clinical practice. Semin Musculoskelet Radiol. 15(3):301–306PubMedCrossRefGoogle Scholar
  52. Mariani G, Molea N, La CL, Porciello G, Lazzeri E, Ferri C (1996) Scintigraphic findings on 99mTc-MDP, 99mTc-sestamibi and 99mTc-HMPAO images in Gaucher’s disease. Eur J Nucl Med 23:466–470PubMedCrossRefGoogle Scholar
  53. Mariani G, Filocamo M, Giona F et al (2003) Severity of bone marrow involvement in patients with Gaucher’s disease evaluated by scintigraphy with 99mTc-sestamibi. J Nucl Med 44:1253–1262PubMedGoogle Scholar
  54. Meikle PJ, Hopwood JJ, Clague AE, Carey WF (1999) Prevalence of lysosomal storage disorders. JAMA 281:249–254PubMedCrossRefGoogle Scholar
  55. Metzgeroth G, Dinter D et al (2006) Systemic mastocytosis simulating osseous metastatic disease. British J Hematol 136:1CrossRefGoogle Scholar
  56. Meyer JS, Harty MP, Mahboubi S et al (1995) Langerhans cell histiocytosis: presentation and evolution of radiologic findings with clinical correlation. Radiographics 15:1135–1146PubMedGoogle Scholar
  57. Michaely HJ, Metzgeroth G, Haneder S, Riffel P, Schönberg SO, Reiter A (2011) Whole-body MR-imaging allows to differentiate indolent from aggressive systemic mastocytosis. ECR 2011 B052. RSNA 2011 SSC10-02Google Scholar
  58. Mikosch P, Kohlfurst S, Gallowitsch HJ et al (2008) Is there a role for scintigraphic imaging of bone manifestations in Gaucher disease? A review of the literature. Nuklearmedizin 47:239–247PubMedGoogle Scholar
  59. Miller SP, Zirzow GC, Doppelt SH, Brady RO, Barton NW (1996) Analysis of the lipids of normal and Gaucher bone marrow. J Lab Clin Med 127:353–358PubMedCrossRefGoogle Scholar
  60. Monroc M, le Ducou PH, Haddad S, Josset P, Montagne JP (1994) Soft tissue signal abnormality associated with eosinophilic granuloma. Correlation of MR imaging with pathologic findings. Pediatr Radiol 24:328–332PubMedCrossRefGoogle Scholar
  61. Pastores GM, Meere PA (2005) Musculoskeletal complications associated with lysosomal storage disorders: Gaucher disease and Hurler-Scheie syndrome (mucopolysaccharidosis type I). Curr Opin Rheumatol 17:70–78PubMedCrossRefGoogle Scholar
  62. Pinto R, Caseiro C, Lemos M et al (2004) Prevalence of lysosomal storage diseases in Portugal. Eur J Hum Genet 12:87–92PubMedCrossRefGoogle Scholar
  63. Poll LW, Koch JA, vom Dahl S et al (2001) Magnetic resonance imaging of bone marrow changes in Gaucher disease during enzyme replacement therapy: first German long-term results. Skeletal Radiol 30:496–503PubMedCrossRefGoogle Scholar
  64. Poll LW, Maas M, Terk MR et al (2002) Response of Gaucher bone disease to enzyme replacement therapy. Br J Radiol 75(Suppl 1):A25–A36PubMedGoogle Scholar
  65. Poll LW, Cox ML, Godehardt E, Steinhof V, vom Dahl S (2011) Whole body MRI in type I Gaucher patients: evaluation of skeletal involvement. Blood Cells Mol Dis 46:53–59PubMedCrossRefGoogle Scholar
  66. Poorthuis BJ, Wevers RA, Kleijer WJ et al (1999) The frequency of lysosomal storage diseases in The Netherlands. Hum Genet 105:151–156PubMedGoogle Scholar
  67. Robertson PL, Maas M, Goldblatt J (2007) Semiquantitative assessment of skeletal response to enzyme replacement therapy for Gaucher’s disease using the bone marrow burden score. AJR Am J Roentgenol 188(6):1521–1528PubMedCrossRefGoogle Scholar
  68. Roca M, Mota J, Giraldo P, Garcia Erce JA (1999) Systemic mastocytosis: MRI of bone marrow involvement. Eur Rad 9:1094–1097Google Scholar
  69. Roca M, Mota J, Alfonso P, Pocoví M, Giraldo P (2007) S-MRI score: a simple method for assessing bone marrow involvement in Gaucher disease. Eur J Radiol 62(1):132–137PubMedCrossRefGoogle Scholar
  70. Rosen BR, Fleming DM, Kushner DC et al (1988) Hematologic bone marrow disorders: quantitative chemical shift MR imaging. Radiology 169:799–804PubMedGoogle Scholar
  71. Rosenthal DI, Scott JA, Barranger J et al (1986) Evaluation of Gaucher disease using magnetic resonance imaging. J Bone Joint Surg Am 68:802–808PubMedGoogle Scholar
  72. Rosenthal DI, Barton NW, McKusick KA et al (1992) Quantitative imaging of Gaucher disease. Radiology 185:841–845PubMedGoogle Scholar
  73. Rosenthal DI, Doppelt SH, Mankin HJ et al (1995) Enzyme replacement therapy for Gaucher disease: skeletal responses to macrophage-targeted glucocerebrosidase. Pediatrics 96:629–637PubMedGoogle Scholar
  74. Sims KB, Pastores GM, Weinreb NJ et al (2008) Improvement of bone disease by imiglucerase (Cerezyme) therapy in patients with skeletal manifestations of type 1 Gaucher disease: results of a 48-month longitudinal cohort study. Clin Genet 73:430–440PubMedCrossRefGoogle Scholar
  75. Song YS, Lee IS, Yi JH, Cho KH, Kim DK, Song JW (2011) Radiologic findings of adult pelvis and appendicular skeletal Langerhans cell histiocytosis in nine patients. Skeletal Radiol 40:1421–1426PubMedCrossRefGoogle Scholar
  76. Stamm AC, Burbelko M, Rominger M (2008) Systemische Mastozytose-seltene Ursache einer pathologischen Wirbelkoerperfraktur. RoFo 180:155–156CrossRefGoogle Scholar
  77. Steinborn MM, Heuck AF, Tiling R, Bruegel M, Gauger L, Reiser MF (1999) Whole-body bone marrow MRI in patients with metastatic disease to the skeletal system. J Comput Assist Tomogr 23:123–129PubMedCrossRefGoogle Scholar
  78. Steiner RM, Mitchell DG, Rao VM et al (1990) Magnetic resonance imaging of bone marrow: diagnostic value in diffuse hematologic disorders. Magn Reson Q 6:17–34PubMedGoogle Scholar
  79. Terk MR, Dardashti S, Liebman HA (2000) Bone marrow response in treated patients with Gaucher disease: evaluation by T1-weighted magnetic resonance images and correlation with reduction in liver and spleen volume. Skeletal Radiol 29:563–571PubMedCrossRefGoogle Scholar
  80. Veyssier-Belot C, Cacoub P, Caparros-Lefebvre D et al (1996) Erdheim-Chester disease: clinical and radiologic characteristics of 59 cases. Medicine (Baltimore) 75:157–169CrossRefGoogle Scholar
  81. Vlieger EJ, Maas M, Akkerman EM, Hollak CE, Den Heeten GJ (2002) Vertebra disc ratio as a parameter for bone marrow involvement and its application in Gaucher disease. J Comput Assist Tomogr 26:843–848PubMedCrossRefGoogle Scholar
  82. Vogler JB III, Murphy WA (1988) Bone marrow imaging. Radiology 168:679–693PubMedGoogle Scholar
  83. vom Dahl S, Poll L, Di Roccio M et al (2006) Evidence-based recommendations for monitoring bone disease and the response to enzyme replacement therapy in Gaucher patients. Curr Med Res Opin 22:1045–1064Google Scholar
  84. Walker R, Kessar P, Blanchard R et al (2000) Turbo STIR magnetic resonance imaging as a whole-body screening tool for metastases in patients with breast carcinoma: preliminary clinical experience. J Magn Reson Imaging 11:343–350PubMedCrossRefGoogle Scholar
  85. Weinreb NJ, Aggio MC, Andersson HC et al (2004) Gaucher disease type 1: revised recommendations on evaluations and monitoring for adult patients. Semin Hematol 41:15–22PubMedCrossRefGoogle Scholar
  86. Weinreb N, Barranger J, Packman S et al (2007) Imiglucerase (Cerezyme) improves quality of life in patients with skeletal manifestations of Gaucher disease. Clin Genet 71:576–588PubMedCrossRefGoogle Scholar
  87. Weinreb NJ, Cappellini MD, Cox TM, Giannini EH, Grabowski GA, Hwu WL, Mankin H, Martins AM, Sawyer C, vom Dahl S, Yeh MS, Zimran A (2010) A validated disease severity scoring system for adults with type 1 Gaucher disease. Genet Med 12(1):44–51PubMedCrossRefGoogle Scholar
  88. Wenstrup RJ, Roca-Espiau M, Weinreb NJ, Bembi B (2002) Skeletal aspects of Gaucher disease: a review. Br J Radiol 75(Suppl 1):A2–A12PubMedGoogle Scholar

Copyright information

© Springer-Verlag Berlin Heidelberg 2013

Authors and Affiliations

  1. 1.Department of Radiology, Academic Medical CenterUniversity of AmsterdamAmsterdamThe Netherlands

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